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<meta name="keywords" content="C0751434, classic phenylketonuria, classic pku, classical phenylketonuria, deficiency disease, phenylalanine hydroxylase, deficiency disease, phenylalanine hydroxylase, severe, deficiency, pah, deficiency, phenylalanine hydroxylase, disease or syndrome, disease, folling, disease, folling's, folling disease, folling's disease, hyperphenylalaninemia, type i, imbecilitus phenylpyruvica, oligophrenia phenylpyruvica, pah deficiency, phenylalanine hydroxylase deficiency, phenylalanine hydroxylase deficiency disease, phenylalanine hydroxylase deficiency disease, severe, phenylketonuria, phenylketonuria i, phenylketonuria, classical, pku, severe phenylalanine hydroxylase deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an amino acid) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.\n\nThe signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.\n\nLess severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment.\n\nPKU can often be managed by following a diet that is low in phenylalanine. Since phenylalanine is found in all proteins, the PKU diet consists of avoiding meat, dairy, nuts, tofu, and other foods that are high in protein. Infants with PKU need to be fed with a low-protein formula. Affected individuals are often limited to certain fruits and vegetables and foods containing fats and sugars (such as butter, jelly, pasta, and potato chips). The artificial sweeter aspartame, which is found in diet soda and many other low-calorie items, should be avoided as it contains high amounts of phenylalanine. The amount of phenylalanine that is safe to consume is different for each person. Affected individuals should work with a health care professional to develop an individualized diet. \n\nBabies born to mothers who have PKU and are not following a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. They may also have heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU who are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also have higher risk of pregnancy loss.\n\n" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=199655
|
||
ConceptID=C0751434
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Classical phenylketonuria<span class="h1sub">(PKU)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199655</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Classic phenylketonuria</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Classical phenylketonuria (7573000); Imbecilitus phenylpyruvica (7573000); Hyperphenylalaninemia, type I (7573000); Severe phenylalanine hydroxylase deficiency (7573000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019259" target="_blank">MONDO:0019259</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/261600" target="_blank">261600</a>; <a href="https://omim.org/entry/612349" target="_blank">612349</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79254">ORPHA79254</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an amino acid) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.<br /><br />The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.<br /><br />Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment.<br /><br />PKU can often be managed by following a diet that is low in phenylalanine. Since phenylalanine is found in all proteins, the PKU diet consists of avoiding meat, dairy, nuts, tofu, and other foods that are high in protein. Infants with PKU need to be fed with a low-protein formula. Affected individuals are often limited to certain fruits and vegetables and foods containing fats and sugars (such as butter, jelly, pasta, and potato chips). The artificial sweeter aspartame, which is found in diet soda and many other low-calorie items, should be avoided as it contains high amounts of phenylalanine. The amount of phenylalanine that is safe to consume is different for each person. Affected individuals should work with a health care professional to develop an individualized diet. <br /><br />Babies born to mothers who have PKU and are not following a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. They may also have heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU who are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also have higher risk of pregnancy loss.<br /><br /> [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5886841[DISCUI]&test_type=Clinical" ref="ncbi_uid=1857273">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1857273" ref="tree=GTR&ncbi_uid=1857273&link_uid=1857273" title="View MedGen record for 'Disorder of amino acid metabolism'">Disorder of amino acid metabolism</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268547[DISCUI]&test_type=Clinical" ref="ncbi_uid=78687">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78687" target="_blank" href="/omim/207900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1217%20OR%20NBK51784)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=78687">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78687" ref="ncbi_uid=78687">V</a></span></span><span class="TLline"><a href="/medgen/78687" ref="tree=GTR&ncbi_uid=78687&link_uid=78687" title="View MedGen record for 'Argininosuccinate lyase deficiency'">Argininosuccinate lyase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721769[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648491">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648491" target="_blank" href="/omim/215700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1217%20OR%20NBK1458)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1648491">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648491" ref="ncbi_uid=1648491">V</a></span></span><span class="TLline"><a href="/medgen/1648491" ref="tree=GTR&ncbi_uid=1648491&link_uid=1648491" title="View MedGen record for 'Citrullinemia type I'">Citrullinemia type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019880[DISCUI]&test_type=Clinical" ref="ncbi_uid=42485">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=42485" ref="ncbi_uid=42485">V</a></span></span><span class="TLline"><a href="/medgen/42485" ref="tree=GTR&ncbi_uid=42485&link_uid=42485" title="View MedGen record for 'Homocystinuria'">Homocystinuria</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024776[DISCUI]&test_type=Clinical" ref="ncbi_uid=6217">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=6217">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6217" ref="ncbi_uid=6217">V</a></span></span><span class="TLline"><a href="/medgen/6217" ref="tree=GTR&ncbi_uid=6217&link_uid=6217" title="View MedGen record for 'Maple syrup urine disease'">Maple syrup urine disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/78690" ref="tree=GTR&ncbi_uid=78690&link_uid=78690" title="View MedGen record for 'Intermittent maple syrup urine disease'">Intermittent maple syrup urine disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855371[DISCUI]&test_type=Clinical" ref="ncbi_uid=343337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343337" target="_blank" href="/omim/248610">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=343337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343337" ref="ncbi_uid=343337">V</a></span></span><span class="TLline"><a href="/medgen/343337" ref="tree=GTR&ncbi_uid=343337&link_uid=343337" title="View MedGen record for 'Maple syrup urine disease type 2'">Maple syrup urine disease type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855369[DISCUI]&test_type=Clinical" ref="ncbi_uid=383668">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383668" target="_blank" href="/omim/248600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=383668">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383668" ref="ncbi_uid=383668">V</a></span></span><span class="TLline"><a href="/medgen/383668" ref="tree=GTR&ncbi_uid=383668&link_uid=383668" title="View MedGen record for 'Maple syrup urine disease type 1A'">Maple syrup urine disease type 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930990[DISCUI]&test_type=Clinical" ref="ncbi_uid=443951">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443951" target="_blank" href="/omim/248611">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=443951">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443951" ref="ncbi_uid=443951">V</a></span></span><span class="TLline"><a href="/medgen/443951" ref="tree=GTR&ncbi_uid=443951&link_uid=443951" title="View MedGen record for 'Maple syrup urine disease type 1B'">Maple syrup urine disease type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/199627" ref="tree=GTR&ncbi_uid=199627&link_uid=199627" title="View MedGen record for 'Thiamine-responsive maple syrup urine disease'">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031485[DISCUI]&test_type=Clinical" ref="ncbi_uid=19244">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1504/" ref="ncbi_uid=19244">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=19244" ref="ncbi_uid=19244">V</a></span></span><span class="TLline"><a href="/medgen/19244" ref="tree=GTR&ncbi_uid=19244&link_uid=19244" title="View MedGen record for 'Phenylketonuria'">Phenylketonuria</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751434[DISCUI]&test_type=Clinical" ref="ncbi_uid=199655">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=199655" target="_blank" href="/omim/261600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=199655" ref="ncbi_uid=199655">V</a></span></span><span class="TLline">Classical phenylketonuria</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268465[DISCUI]&test_type=Clinical" ref="ncbi_uid=75682">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75682" target="_blank" href="/omim/261630">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75682" ref="ncbi_uid=75682">V</a></span></span><span class="TLline"><a href="/medgen/75682" ref="tree=GTR&ncbi_uid=75682&link_uid=75682" title="View MedGen record for 'Dihydropteridine reductase deficiency'">Dihydropteridine reductase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88435" target="_blank" href="/omim/261600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/88435" ref="tree=GTR&ncbi_uid=88435&link_uid=88435" title="View MedGen record for 'Maternal phenylketonuria'">Maternal phenylketonuria</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/1843033" ref="tree=GTR&ncbi_uid=1843033&link_uid=1843033" title="View MedGen record for 'Mild hyperphenylalaninemia'">Mild hyperphenylalaninemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842357" ref="tree=GTR&ncbi_uid=1842357&link_uid=1842357" title="View MedGen record for 'Mild phenylketonuria'">Mild phenylketonuria</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842546" ref="tree=GTR&ncbi_uid=1842546&link_uid=1842546" title="View MedGen record for 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria'">Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268490[DISCUI]&test_type=Clinical" ref="ncbi_uid=75688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75688" target="_blank" href="/omim/276700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1515/" ref="ncbi_uid=75688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75688" ref="ncbi_uid=75688">V</a></span></span><span class="TLline"><a href="/medgen/75688" ref="tree=GTR&ncbi_uid=75688&link_uid=75688" title="View MedGen record for 'Tyrosinemia type I'">Tyrosinemia type I</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842207" ref="tree=MeSH" title="MedGen record for Amino acid or protein metabolism disease with epilepsy">Amino acid or protein metabolism disease with epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/19244" ref="tree=MeSH" title="MedGen record for Phenylketonuria">Phenylketonuria</a></span><ul><li><span class="matched_ds">Classical phenylketonuria</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11280&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Classical phenylketonuria</span> in Orphanet.</div></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_105">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32901468">Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szypowska A,
|
||
Franek E,
|
||
J Grzeszczak W,
|
||
Zięba M,
|
||
Filipow W,
|
||
Kabicz P,
|
||
Więckowska B,
|
||
Sykut-Cegielska J,
|
||
Taybert J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Diabetes Metab</span>
|
||
2020;26(3):118-124.
|
||
doi: 10.5114/pedm.2020.97464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32901468" target="_blank">32901468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2880342">Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speer A,
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||
Bollman R,
|
||
Michel A,
|
||
Neumann R,
|
||
Bommer C,
|
||
Hanke R,
|
||
Riess O,
|
||
Cobet G,
|
||
Coutelle C</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1986 Nov-Dec;6(6):447-50.
|
||
doi: 10.1002/pd.1970060608.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2880342" target="_blank">2880342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6700105">Prenatal diagnosis of classical phenylketonuria by gene mapping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woo SL,
|
||
Lidsky AS,
|
||
Güttler F,
|
||
Thirumalachary C,
|
||
Robson KJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1984 Apr 20;251(15):1998-2002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6700105" target="_blank">6700105</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22classical%20phenylketonuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (21)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29433755">Vitamin/mineral and micronutrient status in patients with classical phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kose E,
|
||
Arslan N</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2019 Feb;38(1):197-203.
|
||
Epub 2018 Feb 15
|
||
doi: 10.1016/j.clnu.2018.01.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29433755" target="_blank">29433755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10626572">Breastfeeding in phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motzfeldt K,
|
||
Lilje R,
|
||
Nylander G</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Suppl</span>
|
||
1999 Dec;88(432):25-7.
|
||
doi: 10.1111/j.1651-2227.1999.tb01151.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10626572" target="_blank">10626572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7899270">Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano V,
|
||
Dianzani I,
|
||
Ponzone A,
|
||
Zammarchi E,
|
||
Eisensmith R,
|
||
Ceratto N,
|
||
Bosco P,
|
||
Indelicato A</span><br />
|
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<div class="nl"><a target="_blank" href="/pubmed/7766956">Molecular analysis of PKU in Ireland.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Neill CA,
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Eisensmith RC,
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<div class="portlet_content ln"><span class="medgenPMauthor">Lou HC,
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<div class="nl"><a target="_blank" href="/pubmed/10626572">Breastfeeding in phenylketonuria.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20phenylketonuria%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (81)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/10626572">Breastfeeding in phenylketonuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Motzfeldt K,
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Lilje R,
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<div class="nl"><a target="_blank" href="/pubmed/4868338">Treatment of classical phenylketonuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">MCBean MS,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20phenylketonuria%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33970801">Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aslan T,
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Yenenler-Kutlu A,
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<span class="bold">PMID: </span><a href="/pubmed/33970801" target="_blank">33970801</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10626572">Breastfeeding in phenylketonuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Motzfeldt K,
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Lilje R,
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Nylander G</span><br />
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<span class="medgenPMjournal">Acta Paediatr Suppl</span>
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1999 Dec;88(432):25-7.
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doi: 10.1111/j.1651-2227.1999.tb01151.x.
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<span class="bold">PMID: </span><a href="/pubmed/10626572" target="_blank">10626572</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8819618">Tetrahydrobiopterin and inherited hyperphenylalaninemias.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Blau N,
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Thony B,
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Spada M,
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<div class="nl"><a target="_blank" href="/pubmed/7707686">Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guldberg P,
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Levy HL,
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Koch R,
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Berlin CM Jr,
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Francois B,
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Henriksen KF,
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<span class="bold">PMID: </span><a href="/pubmed/7707686" target="_blank">7707686</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4140266">Natural history of phenylketonuria and influence of early treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Smith I,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20phenylketonuria%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38723047">Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Muri R,
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Rummel C,
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McKinley R,
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Rebsamen M,
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Maissen-Abgottspon S,
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Kreis R,
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Radojewski P,
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<span class="bold">PMID: </span><a href="/pubmed/38723047" target="_blank">38723047</a><a href="/pmc/articles/PMC11604053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/17628756">Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Huemer M,
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Huemer C,
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Möslinger D,
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<span class="bold">PMID: </span><a href="/pubmed/17628756" target="_blank">17628756</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7766956">Molecular analysis of PKU in Ireland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Neill CA,
|
||
Eisensmith RC,
|
||
Croke DT,
|
||
Naughten ER,
|
||
Cahalane SF,
|
||
Woo SL</span><br />
|
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<span class="medgenPMjournal">Acta Paediatr Suppl</span>
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1994 Dec;407:43-4.
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doi: 10.1111/j.1651-2227.1994.tb13448.x.
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<span class="bold">PMID: </span><a href="/pubmed/7766956" target="_blank">7766956</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7707686">Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guldberg P,
|
||
Levy HL,
|
||
Koch R,
|
||
Berlin CM Jr,
|
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Francois B,
|
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Henriksen KF,
|
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Güttler F</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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1994;17(6):645-51.
|
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doi: 10.1007/BF00712004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7707686" target="_blank">7707686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7215387">Brain uptake of 11C-methionine in phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Comar D,
|
||
Saudubray JM,
|
||
Duthilleul A,
|
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Delforge J,
|
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Maziere M,
|
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Berger G,
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Charpentier C,
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Classical%20phenylketonuria%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (52)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751434%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751434%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751434%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751434%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751434%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751434%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79254" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Classical%20phenylketonuria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22classical%20phenylketonuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Classical%20phenylketonuria%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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